Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
about
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosisThe role of natural killer cells in pathogenesis of autoimmune diseasesHemophagocytic lymphohistiocytosis: review of etiologies and managementHemophagocytic syndrome in children and adultsStructural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesNeutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient miceA Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi ArabiaComprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New ZealandFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Advances in understanding the pathogenesis of HLH.Hereditary and acquired hemophagocytic lymphohistiocytosis.Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities.Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis.Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.Impairment of Immune Function in Children with Familial Hemophagocytic Lymphohistiocytosis.Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.Human perforin gene variation is geographically distributed.Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
P2860
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P2860
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@ast
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@en
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@nl
type
label
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@ast
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@en
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@nl
prefLabel
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@ast
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@en
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@nl
P2093
P50
P3181
P1476
Characterization of PRF1, STX1 ...... phagocytic lymphohistiocytosis
@en
P2093
Aytemiz Gürgey
Chengyun Zheng
Kim Göransdotter Ramme
Nevin Yalman
Yasser Wali
Zakia al-Lamki
P3181
P356
10.1111/J.1365-2141.2008.07315.X
P407
P577
2008-10-01T00:00:00Z